Myh7b - SNV Details



 Gene Information 
Gene Name Myh7b
Gene Description myosin, heavy chain 7B, cardiac muscle, beta [Source:MGI Symbol;Acc:MGI:3710243]
Uniprot Name
CCDS Name
Gene GO
myosin filament; membrane; motor activity; myosin complex; metabolic process; protein binding; vesicle-mediated transport; nucleotide binding; actin filament binding; ATP binding; actin binding
Homolog in other species MYH7B
Omim http://omim.org/entry/609928
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000074652
Chromosome 2
Coordinate 155,621,410     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 30
Allele Frequency
C:R0.63
A:V0.37
Amino Acid Change Q->K (Glutamine -> Lysine)
Sample ID IGL02992
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved